日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

AXIN1 bi-allelic variants disrupting the C-terminal DIX domain cause craniometadiaphyseal osteosclerosis with hip dysplasia

AXIN1 双等位基因变异破坏 C 端 DIX 结构域,导致颅骨干骨硬化和髋关节发育不良

Paulien Terhal, Anton J Venhuizen, Davor Lessel, Wen-Hann Tan, Abdulrahman Alswaid, Regina Grün, Hamad I Alzaidan, Simon von Kroge, Nada Ragab, Maja Hempel, Christian Kubisch, Eduardo Novais, Alba Cristobal, Kornelia Tripolszki, Peter Bauer, Björn Fischer-Zirnsak, Rutger A J Nievelstein, Atty van Di

Pancreatic cancer presenting with acute pancreatitis complicated by Wernicke's encephalopathy and a colonic fistula: a case report

胰腺癌并发急性胰腺炎,并并发韦尼克脑病和结肠瘘:病例报告

Ibnawadh, Abdulrahman K; Alashgar, Hamad I; Peedikayil, Musthafa; Amin, Tarek

Autozygome and high throughput confirmation of disease genes candidacy

纯合子和高通量疾病基因候选确认

Maddirevula, Sateesh; Alzahrani, Fatema; Al-Owain, Mohammed; Al Muhaizea, Mohammad A; Kayyali, Husam R; AlHashem, Amal; Rahbeeni, Zuhair; Al-Otaibi, Maha; Alzaidan, Hamad I; Balobaid, Ameera; El Khashab, Heba Y; Bubshait, Dalal K; Faden, Maha; Yamani, Suad Al; Dabbagh, Omar; Al-Mureikhi, Mariam; Jasser, Abdulla Al; Alsaif, Hessa S; Alluhaydan, Iram; Seidahmed, Mohammed Zain; Alabbasi, Bashair Hamza; Almogarri, Ibrahim; Kurdi, Wesam; Akleh, Hana; Qari, Alya; Al Tala, Saeed M; Alhomaidi, Suzan; Kentab, Amal Y; Salih, Mustafa A; Chedrawi, Aziza; Alameer, Seham; Tabarki, Brahim; Shamseldin, Hanan E; Patel, Nisha; Ibrahim, Niema; Abdulwahab, Firdous; Samira, Menasria; Goljan, Ewa; Abouelhoda, Mohamed; Meyer, Brian F; Hashem, Mais; Shaheen, Ranad; AlShahwan, Saad; Alfadhel, Majid; Ben-Omran, Tawfeg; Al-Qattan, Mohammad M; Monies, Dorota; Alkuraya, Fowzan S

The Correlation Between Hepatitis B Virus Precore/Core Mutations and the Progression of Severe Liver Disease

乙型肝炎病毒前核心/核心突变与严重肝病进展的相关性

Al-Qahtani, Ahmed A; Al-Anazi, Mashael R; Nazir, Nyla; Abdo, Ayman A; Sanai, Faisal M; Al-Hamoudi, Waleed K; Alswat, Khalid A; Al-Ashgar, Hamad I; Khan, Mohammed Q; Albenmousa, Ali; El-Shamy, Ahmed; Alanazi, Salah K; Dela Cruz, Damian; Bohol, Marie Fe F; Al-Ahdal, Mohammed N

Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases

SERAC1基因突变引起的进行性耳聋-肌张力障碍:一项对67例病例的研究

Maas, Roeltje R; Iwanicka-Pronicka, Katarzyna; Kalkan Ucar, Sema; Alhaddad, Bader; AlSayed, Moeenaldeen; Al-Owain, Mohammed A; Al-Zaidan, Hamad I; Balasubramaniam, Shanti; Barić, Ivo; Bubshait, Dalal K; Burlina, Alberto; Christodoulou, John; Chung, Wendy K; Colombo, Roberto; Darin, Niklas; Freisinger, Peter; Garcia Silva, Maria Teresa; Grunewald, Stephanie; Haack, Tobias B; van Hasselt, Peter M; Hikmat, Omar; Hörster, Friederike; Isohanni, Pirjo; Ramzan, Khushnooda; Kovacs-Nagy, Reka; Krumina, Zita; Martin-Hernandez, Elena; Mayr, Johannes A; McClean, Patricia; De Meirleir, Linda; Naess, Karin; Ngu, Lock H; Pajdowska, Magdalena; Rahman, Shamima; Riordan, Gillian; Riley, Lisa; Roeben, Benjamin; Rutsch, Frank; Santer, Rene; Schiff, Manuel; Seders, Martine; Sequeira, Silvia; Sperl, Wolfgang; Staufner, Christian; Synofzik, Matthis; Taylor, Robert W; Trubicka, Joanna; Tsiakas, Konstantinos; Unal, Ozlem; Wassmer, Evangeline; Wedatilake, Yehani; Wolff, Toni; Prokisch, Holger; Morava, Eva; Pronicka, Ewa; Wevers, Ron A; de Brouwer, Arjan P; Wortmann, Saskia B

The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes

基于前1000个诊断样本和外显子组的沙特阿拉伯遗传疾病概况

Monies, Dorota; Abouelhoda, Mohamed; AlSayed, Moeenaldeen; Alhassnan, Zuhair; Alotaibi, Maha; Kayyali, Husam; Al-Owain, Mohammed; Shah, Ayaz; Rahbeeni, Zuhair; Al-Muhaizea, Mohammad A; Alzaidan, Hamad I; Cupler, Edward; Bohlega, Saeed; Faqeih, Eissa; Faden, Maha; Alyounes, Banan; Jaroudi, Dyala; Goljan, Ewa; Elbardisy, Hadeel; Akilan, Asma; Albar, Renad; Aldhalaan, Hesham; Gulab, Shamshad; Chedrawi, Aziza; Al Saud, Bandar K; Kurdi, Wesam; Makhseed, Nawal; Alqasim, Tahani; El Khashab, Heba Y; Al-Mousa, Hamoud; Alhashem, Amal; Kanaan, Imaduddin; Algoufi, Talal; Alsaleem, Khalid; Basha, Talal A; Al-Murshedi, Fathiya; Khan, Sameena; Al-Kindy, Adila; Alnemer, Maha; Al-Hajjar, Sami; Alyamani, Suad; Aldhekri, Hasan; Al-Mehaidib, Ali; Arnaout, Rand; Dabbagh, Omar; Shagrani, Mohammad; Broering, Dieter; Tulbah, Maha; Alqassmi, Amal; Almugbel, Maisoon; AlQuaiz, Mohammed; Alsaman, Abdulaziz; Al-Thihli, Khalid; Sulaiman, Raashda A; Al-Dekhail, Wajeeh; Alsaegh, Abeer; Bashiri, Fahad A; Qari, Alya; Alhomadi, Suzan; Alkuraya, Hisham; Alsebayel, Mohammed; Hamad, Muddathir H; Szonyi, Laszlo; Abaalkhail, Faisal; Al-Mayouf, Sulaiman M; Almojalli, Hamad; Alqadi, Khalid S; Elsiesy, Hussien; Shuaib, Taghreed M; Seidahmed, Mohammed Zain; Abosoudah, Ibraheem; Akleh, Hana; AlGhonaium, Abdulaziz; Alkharfy, Turki M; Al Mutairi, Fuad; Eyaid, Wafa; Alshanbary, Abdullah; Sheikh, Farrukh R; Alsohaibani, Fahad I; Alsonbul, Abdullah; Al Tala, Saeed; Balkhy, Soher; Bassiouni, Randa; Alenizi, Ahmed S; Hussein, Maged H; Hassan, Saeed; Khalil, Mohamed; Tabarki, Brahim; Alshahwan, Saad; Oshi, Amira; Sabr, Yasser; Alsaadoun, Saad; Salih, Mustafa A; Mohamed, Sarar; Sultana, Habiba; Tamim, Abdullah; El-Haj, Moayad; Alshahrani, Saif; Bubshait, Dalal K; Alfadhel, Majid; Faquih, Tariq; El-Kalioby, Mohamed; Subhani, Shazia; Shah, Zeeshan; Moghrabi, Nabil; Meyer, Brian F; Alkuraya, Fowzan S

Correlation between genetic variations and serum level of interleukin 28B with virus genotypes and disease progression in chronic hepatitis C virus infection

慢性丙型肝炎病毒感染中基因变异与血清白细胞介素28B水平、病毒基因型及疾病进展的相关性

Al-Qahtani, Ahmed; Al-Anazi, Mashael; Abdo, Ayman A; Sanai, Faisal M; Al-Hamoudi, Waleed; Alswat, Khalid A; Al-Ashgar, Hamad I; Khan, Mohammed Q; Albenmousa, Ali; Khalaf, Nisreen; Viswan, Nisha; Al-Ahdal, Mohammed N

Clinical, endoscopic, and radiologic features of three subtypes of achalasia, classified using high-resolution manometry

利用高分辨率测压法对三种贲门失弛症亚型进行分类,并分析其临床、内镜和放射学特征。

Khan, Mohammed Q; AlQaraawi, Abdullah; Al-Sohaibani, Fahad; Al-Kahtani, Khalid; Al-Ashgar, Hamad I

Genetic variability of the core protein in hepatitis C virus genotype 4 in Saudi Arabian patients and its implication on pegylated interferon and ribavirin therapy

沙特阿拉伯丙型肝炎病毒4型基因型患者核心蛋白的遗传变异及其对聚乙二醇干扰素和利巴韦林治疗的影响

Alhamlan, Fatimah S; Al-Ahdal, Mohammed N; Khalaf, Nisreen Z; Abdo, Ayman A; Sanai, Faisal M; Al-Ashgar, Hamad I; ElHefnawi, Mahmoud; Zaid, Amina; Al-Qahtani, Ahmed A

Association between HLA variations and chronic hepatitis B virus infection in Saudi Arabian patients

沙特阿拉伯患者HLA变异与慢性乙型肝炎病毒感染之间的关联

Al-Qahtani, Ahmed A; Al-Anazi, Mashael R; Abdo, Ayman A; Sanai, Faisal M; Al-Hamoudi, Waleed; Alswat, Khalid A; Al-Ashgar, Hamad I; Khalaf, Nisreen Z; Eldali, Abdelmoneim M; Viswan, Nisha A; Al-Ahdal, Mohammed N